Fanconi anemia (FA) is a rare hereditary disease characterized by chromosomal instability, developmental abnormalities, bone marrow failure and a predisposition to cancer. The instability of FA patients' cells renders chemotherapeutic and radiation treatments often times lethal for the patient. Curiously, while FA is a relatively rare disease, the FA proteins participate in a common fundamental DNA replication/repair pathway—i.e. the FA/BRCA pathway.
FA may be classified into 16 complementation groups each associated with a defective FA gene. The FA gene products participate in the FA/breast cancer allele (FA/BRCA) DNA repair pathway, which is responsible for genome maintenance after DNA:DNA crosslinks, DNA:protein crosslinks, and S-phase replication stress. While the study of the repair of interstrand crosslinks has been instrumental in defining the players in the FA/BRCA network, the endogenous causes of DNA damage underlying the pathogenesis of Fanconi anemia are not fully identified. A more complete understanding of the interplay of the components in the FA/BRCA pathway is necessary to provide a non-lethal therapy for cancers in both FA cells and FA-like cells, as well as help remedy bone marrow failure in FA patients.